The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9
The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9
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DOI：
10.1038/ng0296-159
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发表时间：
1996-02-01
期刊：
影响因子：
30.8
通讯作者：
Housman, DE
中科院分区：
文献类型：
--
作者：
Borrow, J;Shearman, AM;Housman, DE
t（7;11）（p15;p15）易位是一种复发性染色体异常，主要与急性髓性白血病（FAB M2和M4）相关。我们在这里提出了这种易位的分子定义。在7号染色体上的定位克隆揭示了HOXA 9基因的一致重排，该基因编码可能参与骨髓分化的I类同源结构域蛋白。在11号染色体上，易位靶向NUP 98的人类同源物，NUP 98是GLGG核孔蛋白家族的成员。在断点上拼接的嵌合信息将NUP 98的GLFG马萨诸塞州重复结构域框内融合到HOXA 9同源框。预测的NUP 98-HOXA 9融合蛋白可以通过抑制HOXA 9介导的终末分化和/或异常核质转运来促进白血病发生。
The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB M2 and M4). We present here the molecular definition of this translocation. On chromosome 7 positional cloning revealed the consistent rearrangement of the HOXA9 gene, which encodes a class I homeodomain protein potentially involved in myeloid differentiation. On chromosome 11 the translocation targets the human homologue of NUP98, a member of the GLFG nucleoporin family. Chimaeric messages spliced over the breakpoint fuse the GLFG Massachusetts repeat domains of NUP98 in-frame to the HOXA9 homeobox. The predicted NUP98-HOXA9 fusion protein may promote leukaemogenesis through inhibition of HOXA9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport.